Figure 1.

MSX1 structure and MAPP evaluation of sequence changes. (a) Cartoon of protein [1] showing relative positions of seven conserved motifs (boxes) and missense substitutions
(arrowheads), colored according to whether they have been identified primarily in
control samples (black), tooth agenesis (blue) or CL/P (red). The asterisk indicates
that the A219T substitution is only associated with the phenotype in homozygotes.
(b) MAPP scores for each substitution, arranged according to evidence for pathogenicity.
Dashed lines linking to (a) indicate relative position in the protein for substitutions
found in control and tooth-agenesis samples. Higher MAPP scores indicate a reduced
likelihood that a substitution would be tolerated. Note that the A194V substitution
[4] was not included in the MAPP analysis [1].